| 1 | COL18A1, KNO
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| Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.
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| Corbett MA, Turner SJ, Gardner A, Silver J, Stankovich J, Leventer RJ, Derry CP, Carroll R, Ha T, Scheffer IE, Bahlo M, Jackson GD, Mackey DA, Berkovic SF, Gecz J.
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| Eur J Med Genet 60(8):437-443. doi: 10.1016/j.ejmg.2017.06.002. Epub 2017 Jun 8.
2017
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| 2 | COL18A1
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| Endostatin is higher and associated with pulmonary involvement in primary Sjögren's syndrome.
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| Palm Ø, Ueland T, Garen T, Michelsen AE, Reiseter S, Aukrust P, Aaløkken TM, Molberg Ø.
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| Clin Exp Rheumatol 34(4):690-3. Epub 2016 May 19.
2016
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| 3 | COL18A1, TGM2
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| Endostatin and transglutaminase 2 are involved in fibrosis of the aging kidney.
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| Lin CH, Chen J, Zhang Z, Johnson GV, Cooper AJ, Feola J, Bank A, Shein J, Ruotsalainen HJ, Pihlajaniemi TA, Goligorsky MS.
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| Kidney Int 89(6):1281-92. doi: 10.1016/j.kint.2016.01.030. Epub 2016 Apr 14.
2016
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| 4 | COL18A1
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| Endostatin has ATPase activity, which mediates its antiangiogenic and antitumor activities.
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| Wang S, Lu XA, Liu P, Fu Y, Jia L, Zhan S, Luo Y.
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| Mol Cancer Ther 14(5):1192-201. doi: 10.1158/1535-7163.MCT-14-0836. Epub 2015 Mar 18.
2015
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| 5 | COL18A1
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| Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension.
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| Damico R, Kolb TM, Valera L, Wang L, Housten T, Tedford RJ, Kass DA, Rafaels N, Gao L, Barnes KC, Benza RL, Rand JL, Hamid R, Loyd JE, Robbins IM, Hemnes AR, Chung WK, Austin ED, Drummond MB, Mathai SC, Hassoun PM.
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| Am J Respir Crit Care Med 191(2):208-18. doi: 10.1164/rccm.201409-1742OC.
2015
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| 6 | COL18A1
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| Endostatin is a trans-synaptic signal for homeostatic synaptic plasticity.
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| Wang T, Hauswirth AG, Tong A, Dickman DK, Davis GW.
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| Neuron 83(3):616-29. doi: 10.1016/j.neuron.2014.07.003. Epub 2014 Jul 24.
2014
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| 7 | COL18A1, KNO1
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| Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations
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| Caglayan AO, Baranoski JF, Aktar F, Han W, Tuysuz B, Guzel A, Guclu B, Kaymakcalan H, Aktekin B, Akgumus GT, Murray PB, Erson-Omay EZ, Caglar C, Bakircioglu M, Sakalar YB, Guzel E, Demir N, Tuncer O, Senturk S, Ekici B, Minja FJ, Šestan N, Yasuno K, Bilguvar K, Caksen H, Gunel M.
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| Pediatr Neurol. Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4. 2014
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| 8 | CNMD, COL18A1
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| Chondromodulin-I derived from the inner meniscus prevents endothelial cell proliferation.
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| Fujii M, Furumatsu T, Yokoyama Y, Kanazawa T, Kajiki Y, Abe N, Ozaki T.
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| J Orthop Res 31(4):538-43. doi: 10.1002/jor.22257. Epub 2012 Nov 9.
2013
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| 9 | COL18A1
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| Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.
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| Aikio M, Hurskainen M, Brideau G, Hägg P, Sormunen R, Heljasvaara R, Gould DB, Pihlajaniemi T.
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| Invest Ophthalmol Vis Sci 54(12):7450-62. doi: 10.1167/iovs.13-13039.
2013
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| 10 | COL18A1
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| Endostatin inhibits Callus remodeling during fracture healing in mice.
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| Holstein JH, Karabin-Kehl B, Scheuer C, Garcia P, Histing T, Meier C, Benninger E, Menger MD, Pohlemann T.
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| J Orthop Res 31(10):1579-84. doi: 10.1002/jor.22401. Epub 2013 May 30.
2013
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| 11 | COL18A1, FLT4
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| Characterization of the interaction between endostatin short peptide and VEGF receptor 3.
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| Han KY, Azar DT, Sabri A, Lee H, Jain S, Lee BS, Chang JH.
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| Protein Pept Lett 19(9):969-74.
2012
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| 12 | COL18A1, VEGFA
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| Endostatin lowers blood pressure via nitric oxide and prevents hypertension associated with VEGF inhibition.
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| Sunshine SB, Dallabrida SM, Durand E, Ismail NS, Bazinet L, Birsner AE, Sohn R, Ikeda S, Pu WT, Kulke MH, Javaherian K, Zurakowski D, Folkman JM, Rupnick M.
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| Proc Natl Acad Sci U S A 109(28):11306-11. doi: 10.1073/pnas.1203275109. Epub 2012 Jun 25.
2012
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| 13 | COL18A1
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| Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin.
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| Veillard F, Saidi A, Burden RE, Scott CJ, Gillet L, Lecaille F, Lalmanach G.
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| J Biol Chem 286(43):37158-67. doi: 10.1074/jbc.M111.284869. Epub 2011 Sep 6.
2011
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| 14 | COL18A1
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| Lack of collagen XVIII long isoforms affects kidney podocytes, whereas the short form is needed in the proximal tubular basement membrane.
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| Kinnunen AI, Sormunen R, Elamaa H, Seppinen L, Miller RT, Ninomiya Y, Janmey PA, Pihlajaniemi T.
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| J Biol Chem 286(10):7755-64. doi: 10.1074/jbc.M110.166132. Epub 2010 Dec 30.
2011
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| 15 | COL18A1, TGM2
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| Transglutaminase-2: a new endostatin partner in the extracellular matrix of endothelial cells.
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| Faye C, Inforzato A, Bignon M, Hartmann DJ, Muller L, Ballut L, Olsen BR, Day AJ, Ricard-Blum S.
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| Biochem J 427(3):467-75.
2010
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| 16 | COL18A1
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| Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease.
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| Roberts KE, Kawut SM, Krowka MJ, Brown RS Jr, Trotter JF, Shah V, Peter I, Tighiouart H, Mitra N, Handorf E, Knowles JA, Zacks S, Fallon MB; Pulmonary Vascular Complications of Liver Disease Study Group.
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| Gastroenterology 139(1):130-9.e24. Epub 2010 Mar 24.
2010
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| 17 | COL18A1
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| Prognostic relevance of collagen XVIII expression in metastatic gastric carcinoma.
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| Lee KS, Park GS, Hong SH, Byun JH, Woo IS, Jeon HM, Hong YS.
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| Tumour Biol 31(3):165-70. Epub 2010 Apr 2.
2010
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| 18 | COL18A1
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| The N-terminal integrity is critical for the stability and biological functions of endostatin.
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| Fu Y, Luo Y.
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| Biochemistry 49(30):6420-9.
2010
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| 19 | COL18A1
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| Molecular interplay between endostatin, integrins, and heparan sulfate.
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| Faye C, Moreau C, Chautard E, Jetne R, Fukai N, Ruggiero F, Humphries MJ, Olsen BR, Ricard-Blum S.
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| J Biol Chem 284(33):22029-40. Epub 2009 Jun 5.PMID: 19502598 2009
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| 20 | COL18A1, KNO
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| Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder.
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| Paisán-Ruiz C, Scopes G, Lee P, Houlden H.
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| Am J Med Genet B Neuropsychiatr Genet 150B(7):993-7.PMID: 19160445 2009
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| 21 | COL18A1
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| The heparin binding motif of endostatin mediates its interaction with receptor nucleolin.
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| Fu Y, Chen Y, Luo X, Liang Y, Shi H, Gao L, Zhan S, Zhou D, Luo Y.
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| Biochemistry 48(49):11655-63.
2009
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| 22 | COL18A1,KNO
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| CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
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| Keren B, Suzuki OT, Gerard-Blanluet M, Bremond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A.
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| Am J Med Genet A 143(13):1514-8. No abstract available. 2007
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| 23 | COL18A1
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| Expression of endostatin in human choroidal neovascular membranes secondary to age-related macular degeneration.
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| Tatar O, Shinoda K, Adam A, Rohrbach JM, Lucke K, Henke-Fahle S, Bartz-Schmidt KU, Grisanti S.
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| Exp Eye Res 83(2):329-38. Epub 2006 Apr 11. 2006
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| 24 | COL18A1, COL28A1
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| Collagen XXVIII, a novel von Willebrand factor A domain-containing protein with many imperfections in the collagenous domain.
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| Veit G, Kobbe B, Keene DR, Paulsson M, Koch M, Wagener R.
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| J Biol Chem 281(6):3494-504. Epub 2005 Dec 5.PMID: 16330543 2006
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| 25 | COL18A1, KNO1
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| How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
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| Suzuki OT, Bagatini K, Sertie AL, Passos-Bueno MR.
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| Hum Mutat 25(3):314-5; author reply 316. No abstract available. 2005
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| 26 | COL18A1, KNO1, KNO4
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| Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
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| Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M.
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| Hum Mutat 23(1):77-84. 2004
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| 27 | COL18A1
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| Collagen XVIII/endostatin is essential for vision and retinal pigment epithelial function.
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| Marneros AG, Keene DR, Hansen U, Fukai N, Moulton K, Goletz PL, Moiseyev G, Pawlyk BS, Halfter W, Dong S, Shibata M, Li T, Crouch RK, Bruckner P, Olsen BR.
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| EMBO J 23(1):89-99. Epub 2003 Dec 11. 2004
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| 28 | COL18A1, COL4A3
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| Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha vbeta 3 and alpha 5beta 1 integrins.
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| Sudhakar A, Sugimoto H, Yang C, Lively J, Zeisberg M, Kalluri R.
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| Proc Natl Acad Sci U S A 100(8):4766-71. 2003
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| 29 | COL18A1, KNO
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| Evidence of neuronal migration disorders in Knobloch syndrome: Clinical and molecular analysis of two novel families.
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| Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S.
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| Am J Med Genet 119A(1):15-9. 2003
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| 30 | COL18A1
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| Endostatin causes G1 arrest of endothelial cells through inhibition of cyclin D1.
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| Hanai J, Dhanabal M, Karumanchi SA, Albanese C, Waterman M, Chan B, Ramchandran R, Pestell R, Sukhatme VP.
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| J Biol Chem 277(19):16464-9. 2002
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| 31 | COL15A1, COL18A1
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| Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are expressed in specialized basement membranes.
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| Tomono Y, Naito I, Ando K, Yonezawa T, Sado Y, Hirakawa S, Arata J, Okigaki T, Ninomiya Y.
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| Cell Struct Funct 27(1):9-20. 2002
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| 32 | COL18A1
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| Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome.
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| Suzuki OT, Sertie AL, Der Kaloustian VM, Kok F, Carpenter M, Murray J, Czeizel AE, Kliemann SE, Rosemberg S, Monteiro M, Olsen BR, Passos-Bueno MR.
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| Am J Hum Genet 71(6):1320-9. 2002
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| 33 | COL18A1
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| Endostatin regulates endothelial cell adhesion and cytoskeletal organization.
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| Dixelius J, Cross M, Matsumoto T, Sasaki T, Timpl R, Claesson-Welsh L.
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| Cancer Res 62(7):1944-7. 2002
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| 34 | COL18A1
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| High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours.
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| Zorick TS, Mustacchi Z, Bando SY, Zatz M, Moreira-Filho CA, Olsen B, Passos-Bueno MR.
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| Eur J Hum Genet 9(11):811-4. 2001
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| 35 | COL18A1, POFUT2, KNO
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| Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
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| Sertie AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR.
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| Hum Mol Genet 9(13):2051-8. 2000
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| 36 | ADARB1, C21orf33, CABIN1, COL18A1, COL6A1, COL6A2, CSTB, ILVBL, ITGB2, KRTAP12-1, PDXK, PFKL, PGA1, PRMT2, S100B, TRAPPC10, TRPM2, UBE2G2
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| Perfect conserved linkage across the entire mouse chromosome 10 region homologous to human chromosome 21.
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| Wiltshire T, Pletcher M, Cole SE, Villanueva M, Birren B, Lehoczky J, Dewar K, Reeves RH.
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| Genome Res 9(12):1214-22 1999
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| 37 | COL18A1
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| Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.
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| Saarela J, Ylikarppa R, Rehn M, Purmonen S, Pihlajaniemi T.
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| Matrix Biol 16(6):319-28. 1998
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| 38 | COL18A1
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| Endostatin: an endogenous inhibitor of angiogenesis and tumor growth.
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| O'Reilly MS, Boehm T, Shing Y, Fukai N, Vasios G, Lane WS, Flynn E, Birkhead JR, Olsen BR, Folkman J.
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| Cell 88(2):277-85. 1997
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| 39 | HOKPP1, CACNA1S, SCN4A, COL18A1, MCR, MCT
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| The skeletal muscle sodium and chloride channel diseases.
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| Hudson AJ, et al.
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| Brain 118 : 547-563. 1995
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| 40 | COL18A1
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| Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1 (XVIII) collagen gene to mouse chromosome 10 and human chromosome 21.
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| Oh SP, et al.
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| Genomics 19 : 494-499. 1994
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| 41 | COL15A1, COL18A1
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| The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen.
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| Muragaki Y, Abe N, Ninomiya Y, Olsen BR, Ooshima A.
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| J Biol Chem 269(6):4042-6. 1994
|